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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Metabolic Bone Diseases
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Accession:DOID:9002278 term browser browse the term
Definition:Diseases that affect the METABOLIC PROCESSES of BONE TISSUE.
Synonyms:exact_synonym: Metabolic Bone Disease;   osteopenia;   osteopenias
 primary_id: MESH:D001851
 alt_id: RDO:0001042

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Metabolic Bone Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773408 NCBI chrNW_004624764:6,393,741...6,447,739
Ensembl chrNW_004624764:6,393,765...6,447,829 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17986521 NCBI chrNW_004624746:378,123...576,809
Ensembl chrNW_004624746:461,933...577,050 		JBrowse link
G Card11 caspase recruitment domain family member 11 ISO ClinVar Annotator: match by term: Osteopenia ClinVar PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More... NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981 		JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO protein:increased expression:thigh bone (mouse) RGD PMID:21982926 RGD:10401269 NCBI chrNW_004624794:9,809,007...9,813,418 JBrowse link
G Cftr CF transmembrane conductance regulator ISO associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse) RGD PMID:20570219 RGD:11566031 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Osteopenia ClinVar PMID:7942841 PMID:8364588 PMID:9295084 PMID:9443882 PMID:16199547 More... NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24381012 NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21567076 PMID:21773994 RGD:6907379 RGD:6907380 NCBI chrNW_004624791:11,313,139...11,316,998
Ensembl chrNW_004624791:11,313,142...11,315,982 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18505767 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Gc GC vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24381012 NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316 		JBrowse link
G Gnas GNAS complex locus ISO Albright hereditary osteodystrophy,OMIM:103580;DNA:deletion RGD PMID:2122458 RGD:1601375 NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:8619365 PMID:11014614 PMID:21567076 RGD:10402812 RGD:6907380 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21567076 RGD:6907380 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO RGD PMID:8619365 RGD:10402812 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		JBrowse link
G Il7 interleukin 7 ISO RGD PMID:18992278 RGD:10402929 NCBI chrNW_004624744:12,562,536...12,604,037
Ensembl chrNW_004624744:12,567,661...12,604,074 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21695131 NCBI chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079 		JBrowse link
G LOC101700018 sterol 26-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:24381012 NCBI chrNW_004624823:6,199,807...6,258,273
Ensembl chrNW_004624823:6,200,047...6,258,001 		JBrowse link
G LOC101724787 vitamin D 25-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24381012 NCBI chrNW_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10052453 NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO DNA:missense mutations:cds:p.A214V,p.G171V(mouse) RGD PMID:26554834 RGD:11343819 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17440987 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773408 NCBI chrNW_004624795:5,456,029...5,462,529
Ensembl chrNW_004624795:5,456,029...5,461,587 		JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773408 NCBI chrNW_004624749:12,631,259...12,702,867 JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive ClinVar PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
congenital disorder of glycosylation type IIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa OMIM
ClinVar		 PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chrNW_004624731:19,080,986...19,082,887
Ensembl chrNW_004624731:19,081,110...19,082,453 		JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets ClinVar PMID:9097956 PMID:9199930 PMID:11468271 PMID:12727977 PMID:18625346 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
glycoproteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More... NCBI chrNW_004624750:6,358,030...6,372,391
Ensembl chrNW_004624750:6,358,030...6,372,546 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis		 ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chrNW_004624750:6,315,949...6,344,919
Ensembl chrNW_004624750:6,315,908...6,343,820 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC/variant pseudo-hurler polydystrophy RGD PMID:10712439 RGD:1599045 NCBI chrNW_004624913:2,062,607...2,071,603
Ensembl chrNW_004624913:2,062,255...2,071,336 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chrNW_004624828:634,318...643,406
Ensembl chrNW_004624828:634,214...643,633 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Sialidosis
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis		 ClinVar PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chrNW_004624754:24,382,509...24,386,410
Ensembl chrNW_004624754:24,382,467...24,387,874 		JBrowse link
G Sgcb sarcoglycan beta ISO ClinVar Annotator: match by term: Sialidosis ClinVar PMID:9032047 PMID:25741868 PMID:28492532 PMID:33250842 NCBI chrNW_004624761:17,670,920...17,690,513
Ensembl chrNW_004624761:17,670,887...17,688,659 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chrNW_004624844:484,593...760,155 JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO OMIM:241530
DNA:deletions, snps:multiple (human)		 RGD
MouseDO		 PMID:16358215 PMID:19570882 RGD:7242924 RGD:7242925 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition OMIM
ClinVar		 PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More... NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,666,410...12,683,273
Ensembl chrNW_004624733:12,675,966...12,683,117 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004624733:12,666,410...12,683,273
Ensembl chrNW_004624733:12,675,966...12,683,117 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624801:4,612,890...4,630,454
Ensembl chrNW_004624801:4,612,849...4,630,451 		JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 PMID:25741868 PMID:35738466 NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 More... NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:25741868 PMID:35738466 NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:31959358 NCBI chrNW_004624731:7,186,570...7,365,900
Ensembl chrNW_004624731:7,205,335...7,367,112 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 More... NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234 		JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 OMIM
ClinVar		 PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... NCBI chrNW_004624753:5,918,005...5,983,480
Ensembl chrNW_004624753:5,917,689...5,982,308 		JBrowse link
idiopathic juvenile osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) RGD PMID:22487062 RGD:12793058 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO OMIM:251850 MouseDO NCBI chrNW_004624764:6,874,453...6,891,952 JBrowse link
G Myo5b myosin VB ISO ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 More... NCBI chrNW_004624778:13,352,285...13,740,621
Ensembl chrNW_004624778:13,347,705...13,740,767 		JBrowse link
mucolipidosis II alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis type II OMIM
ClinVar		 PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 More... NCBI chrNW_004624750:6,315,949...6,344,919
Ensembl chrNW_004624750:6,315,908...6,343,820 		JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chrNW_004624750:6,315,949...6,344,919
Ensembl chrNW_004624750:6,315,908...6,343,820 		JBrowse link
mucolipidosis III alpha/beta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar
OMIM		 PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chrNW_004624750:6,315,949...6,344,919
Ensembl chrNW_004624750:6,315,908...6,343,820 		JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: GNPTG-related condition | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar		 PMID:3634453 PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 More... NCBI chrNW_004624913:2,062,607...2,071,603
Ensembl chrNW_004624913:2,062,255...2,071,336 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM ClinVar PMID:25741868 NCBI chrNW_004624913:2,071,512...2,114,712
Ensembl chrNW_004624913:2,071,629...2,114,718 		JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Sialidase deficiency ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chrNW_004624766:9,018,616...9,092,365
Ensembl chrNW_004624766:9,018,721...9,092,287 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: NEU1-related condition | ClinVar Annotator: match by term: NEUG DEFICIENCY | ClinVar Annotator: match by term: Sialidosis type I OMIM
ClinVar		 PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chrNW_004624754:24,382,509...24,386,410
Ensembl chrNW_004624754:24,382,467...24,387,874 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Mucolipidosis type 1 ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chrNW_004624844:484,593...760,155 JBrowse link
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigf phosphatidylinositol glycan anchor biosynthesis class F ISO ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome OMIM
ClinVar		 PMID:33386993 NCBI chrNW_004624738:28,031,839...28,069,409 JBrowse link
osteomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO protein:increased expression:cortical bone, trabecular bone (mouse) RGD PMID:11159866 RGD:7794797 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11414762 NCBI chrNW_004624872:4,345,045...4,358,456 JBrowse link
osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO RGD PMID:10700189 RGD:10047094 NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491 		JBrowse link
G Ace angiotensin I converting enzyme ISO associated with Hypertension RGD PMID:19590507 RGD:2325225 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Actg1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G Adcy5 adenylate cyclase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18029912 NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462 		JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO mRNA:increased expression:proximal end of left femur (rat) RGD PMID:21542009 PMID:22036861 RGD:6767561 RGD:7245948 NCBI chrNW_004624754:24,138,086...24,140,900 JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 NCBI chrNW_004624757:10,972,976...11,123,103
Ensembl chrNW_004624757:10,972,692...11,125,898 		JBrowse link
G Anxa2 annexin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624781:11,781,893...11,820,440
Ensembl chrNW_004624781:11,781,886...11,821,816 		JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:14600402 PMID:18847323 RGD:10043196 RGD:10043198 NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624765:782,703...809,461
Ensembl chrNW_004624765:782,701...809,448 		JBrowse link
G Atm ATM serine/threonine kinase ISO RGD PMID:16644862 RGD:10047420 NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta treatment ISO RGD PMID:26869358 RGD:14696735 NCBI chrNW_004624793:472,241...479,753
Ensembl chrNW_004624793:472,241...479,753 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:22648569 RGD:10054093 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein susceptibility ISO DNA:SNP, haplotype:promoter:g.-298C>T (human)
associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum		 RGD PMID:15108065 PMID:21550389 PMID:23137636 RGD:10045665 RGD:6483552 RGD:6483579 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36453845 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Ca2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624744:6,168,030...6,183,407
Ensembl chrNW_004624744:6,167,606...6,183,538 		JBrowse link
G Calca calcitonin related polypeptide alpha ISO RGD PMID:2502220 RGD:734677 NCBI chrNW_004624766:6,764,388...6,771,396
Ensembl chrNW_004624766:6,766,185...6,768,173 		JBrowse link
G Calcr calcitonin receptor susceptibility ISO ClinVar Annotator: match by term: CALCR-related condition OMIM
ClinVar		 PMID:9003491 PMID:9571205 PMID:9817931 PMID:25741868 PMID:28492532 NCBI chrNW_004624813:233,117...357,507
Ensembl chrNW_004624813:233,042...357,396 		JBrowse link
G Cap1 cyclase associated actin cytoskeleton regulatory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624764:22,517,254...22,542,356
Ensembl chrNW_004624764:22,517,315...22,542,351 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624750:28,202,524...28,217,223
Ensembl chrNW_004624750:28,198,475...28,217,158 		JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO OMIM:166710 MouseDO NCBI chrNW_004624824:8,099,877...8,156,661
Ensembl chrNW_004624824:8,116,537...8,153,482 		JBrowse link
G Clec11a C-type lectin domain containing 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27976999 NCBI chrNW_004624832:3,929,949...3,934,088
Ensembl chrNW_004624832:3,929,949...3,932,370 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: CALCR-related condition | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
DNA:SNP, haplotype:intron:g.2046G>T (human)		 OMIM
ClinVar
RGD		 PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:10045665 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis OMIM
ClinVar		 PMID:1978725 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chrNW_004624813:1,174,071...1,209,929
Ensembl chrNW_004624813:1,174,224...1,209,616 		JBrowse link
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chrNW_004624772:19,013,189...19,026,756
Ensembl chrNW_004624772:19,015,835...19,025,588 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO RGD PMID:29882473 RGD:14700776 NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Daam2 dishevelled associated activator of morphogenesis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30598549 NCBI chrNW_004624754:18,525,285...18,633,823
Ensembl chrNW_004624754:18,526,332...18,587,557 		JBrowse link
G Dbp D-box binding PAR bZIP transcription factor ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004624832:5,240,338...5,246,185
Ensembl chrNW_004624832:5,240,365...5,246,185 		JBrowse link
G Dspp dentin sialophosphoprotein ISO protein:decreased expression:incisor dental pulp (rat) RGD PMID:23974864 RGD:12911019 NCBI chrNW_004624872:4,096,001...4,102,392 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624818:3,223,384...3,235,128
Ensembl chrNW_004624818:3,223,308...3,238,419 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:23281008 RGD:10045609 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Esr1 estrogen receptor 1 no_association
treatment		 ISO DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:SNP:intron:397T>C (human)
DNA:repeat:5' utr:g.-1174(TA)10-27 (human)
DNA:SNP:exon:2014G>A (human)
DNA:repeat:intron:IVS5+225(CA)18-25 (human)
DNA:SNP, haplotype:intron:g.938C>T (human)		 RGD PMID:10773580 PMID:16530497 PMID:16955786 PMID:17896124 PMID:17953702 More... RGD:10045665 RGD:10045825 RGD:10045826 RGD:10045828 RGD:10045834 RGD:10045839 RGD:10045841 RGD:8694129 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility
treatment		 ISO DNA:SNP, haplotypes: :-1213T>C (human)
DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:3' utr: g.dupCA (human)		 RGD PMID:16530497 PMID:16777502 PMID:16955786 PMID:21421090 PMID:22948905 RGD:10045825 RGD:10045841 RGD:1626507 RGD:7364765 RGD:8694129 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295 		JBrowse link
G Esrra estrogen related receptor alpha ISO RGD PMID:19936213 RGD:10401868 NCBI chrNW_004624767:21,999,932...22,007,582
Ensembl chrNW_004624767:21,999,932...22,009,485 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624858:5,848,817...5,856,448 JBrowse link
G Fgb fibrinogen beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624858:5,866,104...5,874,173
Ensembl chrNW_004624858:5,864,784...5,874,869 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735 		JBrowse link
G Ghr growth hormone receptor treatment ISO associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
associated with Cholestasis		 RGD PMID:17647196 PMID:19424739 RGD:10003128 RGD:10003131 NCBI chrNW_004624759:12,282,295...12,570,106
Ensembl chrNW_004624759:12,285,594...12,570,906 		JBrowse link
G Golm1 golgi membrane protein 1 treatment ISO protein:increased expression:serum RGD PMID:30396165 RGD:401827113 NCBI chrNW_004624809:9,485,832...9,555,889
Ensembl chrNW_004624809:9,486,724...9,534,333 		JBrowse link
G Gorab golgin, RAB6 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:18997784 NCBI chrNW_004624826:8,230,545...8,250,519
Ensembl chrNW_004624826:8,230,740...8,250,918 		JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28869591 NCBI chrNW_004624879:97,125...1,196,747
Ensembl chrNW_004624879:97,257...1,192,604 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624732:9,298,156...9,447,883 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Gsn gelsolin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:19464221 RGD:10401828 NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535 		JBrowse link
G Hfe homeostatic iron regulator ISO associated with hemochromatosis RGD PMID:26829642 RGD:14746963 NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376 		JBrowse link
G Id4 inhibitor of DNA binding 4, HLH protein ISO OMIM:166710 MouseDO NCBI chrNW_004624756:6,816,364...6,819,144
Ensembl chrNW_004624756:6,814,842...6,819,578 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chrNW_004624766:22,122,739...22,134,231
Ensembl chrNW_004624766:22,132,437...22,134,684 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO OMIM:166710 MouseDO NCBI chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928 		JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO associated with Diabetes Mellitus, Experimental
associated with Cholestasis
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast		 RGD PMID:1466160 PMID:10499542 PMID:17647196 PMID:19424739 RGD:10003127 RGD:10003128 RGD:10003131 RGD:10003132 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:18079194 RGD:10045888 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:12162999 RGD:10402555 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9284698 RGD:10402579 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Rheumatoid RGD PMID:10555884 RGD:6907107 NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22997530 RGD:7204491 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a rat model RGD PMID:8182127 RGD:8551834 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15995586 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		JBrowse link
G Irak3 interleukin 1 receptor associated kinase 3 ISO OMIM:166710 MouseDO NCBI chrNW_004624802:2,042,486...2,098,921
Ensembl chrNW_004624802:2,047,409...2,098,545 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO mRNA, protein:decreased expression:multiple RGD PMID:22820932 RGD:7207063 NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: RGD PMID:22820932 RGD:7207063 NCBI chrNW_004624793:2,615,092...2,636,835
Ensembl chrNW_004624793:2,614,589...2,636,947 		JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:9363890 RGD:10403047 NCBI chrNW_004624915:95,155...110,834 JBrowse link
G Lep leptin treatment ISO associated with chronic obstructive pulmonary disease; protein:decreased expression:serum
human protein in a rat model
protein:increased expression:serum (rat)		 RGD PMID:11459801 PMID:12609558 PMID:21376149 PMID:24250662 RGD:10053572 RGD:10053615 RGD:10053630 RGD:5128771 NCBI chrNW_004624783:7,708,820...7,721,610
Ensembl chrNW_004624783:7,708,588...7,721,727 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:missense mutations:CDS:p.K109R, Q223R (human) RGD PMID:23460508 RGD:10411886 NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049 		JBrowse link
G LOC101702005 aromatase ISO DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17002564 PMID:20723554 RGD:1625350 NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212 		JBrowse link
G LOC101716773 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004624790:2,183,079...2,200,219
Ensembl chrNW_004624790:2,182,598...2,200,425 		JBrowse link
G LOC101726496 steroid 17-alpha-hydroxylase/17,20 lyase ISO DNA:snps:multiple (human) RGD PMID:17002564 RGD:1625350 NCBI chrNW_004624831:2,155,851...2,166,621
Ensembl chrNW_004624831:2,157,048...2,166,539 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis RGD
ClinVar		 PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 More... RGD:12793063 RGD:7240519 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16648989 PMID:16936800 NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO RGD PMID:18442314 RGD:10045965 NCBI chrNW_004624754:21,528,121...21,598,064
Ensembl chrNW_004624754:21,527,333...21,597,733 		JBrowse link
G Mgll monoglyceride lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with osteoporosis; protein:increased expression:serum RGD PMID:19411568 RGD:5129553 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22704852 RGD:7240519 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nog noggin ISO RGD PMID:12975477 RGD:10414323 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO DNA:silent mutation, haplotype:p.G75G (human) RGD PMID:16530497 RGD:10045825 NCBI chrNW_004624745:3,389,486...3,469,599
Ensembl chrNW_004624745:3,392,572...3,468,576 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 NCBI chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596 		JBrowse link
G Oxct1 3-oxoacid CoA-transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624759:13,093,409...13,247,244
Ensembl chrNW_004624759:13,093,408...13,247,244 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624801:10,700,301...10,712,889
Ensembl chrNW_004624801:10,699,161...10,712,896 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO protein:increased expression:osteoblast: RGD PMID:22550338 RGD:10045656 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chrNW_004624733:39,826,435...39,840,280
Ensembl chrNW_004624733:39,825,025...39,840,361 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chrNW_004624766:22,136,826...22,142,218
Ensembl chrNW_004624766:22,137,533...22,141,975 		JBrowse link
G Pgls 6-phosphogluconolactonase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624908:522,698...526,526
Ensembl chrNW_004624908:519,127...529,686 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624781:1,796,909...1,823,787
Ensembl chrNW_004624781:1,796,801...1,824,144 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624762:4,939,683...4,967,327
Ensembl chrNW_004624762:4,939,599...4,967,371 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: X-linked osteoporosis with fractures ClinVar PMID:24088043 PMID:25741868 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624825:4,688,662...4,699,912
Ensembl chrNW_004624825:4,690,831...4,700,717 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624737:27,625,120...27,635,221 JBrowse link
G Psma2 proteasome 20S subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624740:18,231,152...18,241,403
Ensembl chrNW_004624740:18,230,800...18,241,399 		JBrowse link
G Psma5 proteasome 20S subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624772:5,127,271...5,148,928
Ensembl chrNW_004624772:5,122,928...5,148,911 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:16442794 RGD:10043381 NCBI chrNW_004624759:14,243,887...14,259,090
Ensembl chrNW_004624759:14,244,899...14,258,445 		JBrowse link
G Pth parathyroid hormone treatment ISO protein:decreased expression:serum (rat)
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 More... RGD:7242793 RGD:7242907 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Rab7b RAB7B, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624807:5,307,361...5,334,578
Ensembl chrNW_004624807:5,307,440...5,334,945 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18847324 NCBI chrNW_004624807:6,817,472...6,827,374
Ensembl chrNW_004624807:6,817,195...6,827,462 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624796:10,994,043...11,183,091
Ensembl chrNW_004624796:10,994,062...11,183,562 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteoporosis ClinVar PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248 NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585 		JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:22555620 PMID:25377437 RGD:10047129 RGD:10053568 NCBI chrNW_004624754:2,304,476...2,332,705
Ensembl chrNW_004624754:2,304,634...2,330,946 		JBrowse link
G Sod2 superoxide dismutase 2 no_association
susceptibility		 ISO DNA:SNPs:5' utr, exon, intron:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human)		 RGD
CTD		 PMID:18924182 PMID:26336112 RGD:11035299 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Tgfb1 transforming growth factor beta 1 treatment ISO associated with Uremia;protein:increased expression:osteoblast, osteoclast
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12706579 PMID:17647196 RGD:10003128 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tln1 talin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624868:5,061,108...5,095,433
Ensembl chrNW_004624868:5,061,290...5,095,661 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11a ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: marker/mechanism
OMIM:166710		 CTD
MouseDO		 PMID:17667143 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:17002564 RGD:1625350 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO OMIM:166710
CTD Direct Evidence: therapeutic		 MouseDO
CTD
RGD		 PMID:17002564 PMID:17882678 RGD:1625350 NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755 		JBrowse link
G Tpm4 tropomyosin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624908:1,135,240...1,155,175
Ensembl chrNW_004624908:1,132,215...1,152,319 		JBrowse link
G Tuba1b tubulin alpha 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624816:3,047,272...3,050,777 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624745:27,647,672...27,660,599
Ensembl chrNW_004624745:27,647,597...27,660,809 		JBrowse link
G Vcl vinculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624754:7,484,759...7,590,108
Ensembl chrNW_004624754:7,484,773...7,590,108 		JBrowse link
G Vdr vitamin D receptor no_association ISO associated with Cystic Fibrosis
OMIM:166710		 RGD
MouseDO		 PMID:16713399 RGD:4889871 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18924182 NCBI chrNW_004624755:21,090,599...21,124,107
Ensembl chrNW_004624755:21,090,717...21,123,259 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO ClinVar PMID:23499309 PMID:23656646 PMID:25741868 PMID:27450065 PMID:28492532 More... NCBI chrNW_004624816:3,209,605...3,212,969
Ensembl chrNW_004624816:3,209,699...3,212,606 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chrNW_004624766:10,556,715...10,608,070
Ensembl chrNW_004624766:10,556,645...10,608,083 		JBrowse link
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM
ClinVar		 PMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708 NCBI chrNW_004624730:15,908,551...15,936,886
Ensembl chrNW_004624730:15,908,551...15,936,856 		JBrowse link
Postmenopausal Osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO protein:increased expression:femur (rat) RGD PMID:19736603 RGD:2315910 NCBI chrNW_004624828:3,305,913...3,309,983
Ensembl chrNW_004624828:3,307,635...3,310,547 		JBrowse link
G Ar androgen receptor ISO RGD PMID:12593895 RGD:1578682 NCBI chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459 		JBrowse link
G Bmp15 bone morphogenetic protein 15 susceptibility ISO DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004624893:3,014,535...3,020,862
Ensembl chrNW_004624893:3,014,989...3,021,746 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17227729 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 More... NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 More... NCBI chrNW_004624813:1,174,071...1,209,929
Ensembl chrNW_004624813:1,174,224...1,209,616 		JBrowse link
G Esr1 estrogen receptor 1 susceptibility
treatment		 ISO DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
DNA:SNP:intron:IVS1T>C (human)		 RGD PMID:16604479 PMID:16972020 RGD:10045838 RGD:8158082 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP, haplotype:3'utr:*39A>G (human)
DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
DNA:SNP: :-1213T>C (human)		 RGD PMID:16777502 PMID:17945165 PMID:22335445 RGD:10045847 RGD:10045849 RGD:1626507 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:31774873 NCBI chrNW_004624885:942,998...949,529
Ensembl chrNW_004624885:943,571...949,528 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO protein:increased expression: : RGD PMID:24101107 RGD:10044241 NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:18067744 PMID:24023068 RGD:10402191 RGD:10402540 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chrNW_004624766:22,122,739...22,134,231
Ensembl chrNW_004624766:22,132,437...22,134,684 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:11063288 RGD:10045861 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:16753016 RGD:10402556 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Il7 interleukin 7 treatment ISO RGD PMID:23662133 RGD:10402930 NCBI chrNW_004624744:12,562,536...12,604,037
Ensembl chrNW_004624744:12,567,661...12,604,074 		JBrowse link
G LOC101702005 aromatase ISO DNA:snps:exon:multiple (human) RGD PMID:17118999 RGD:1600860 NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:24715757 PMID:25741868 PMID:28492532 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 treatment ISO RGD PMID:31399090 RGD:329328926 NCBI chrNW_004624806:905,487...1,022,784
Ensembl chrNW_004624806:905,174...1,022,800 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 susceptibility ISO DNA:silent mutation:cds:p.G75G (human) RGD PMID:22335445 RGD:10045849 NCBI chrNW_004624745:3,389,486...3,469,599
Ensembl chrNW_004624745:3,392,572...3,468,576 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chrNW_004624766:22,136,826...22,142,218
Ensembl chrNW_004624766:22,137,533...22,141,975 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Postmenopausal osteoporosis ClinVar PMID:25741868 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment ISO RGD PMID:11917107 RGD:10003045 NCBI chrNW_004624759:14,243,887...14,259,090
Ensembl chrNW_004624759:14,244,899...14,258,445 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: therapeutic CTD PMID:20567999 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO RGD PMID:17537919 RGD:1642610 NCBI chrNW_004624758:22,065,448...22,182,604
Ensembl chrNW_004624758:22,124,836...22,182,605 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10750555 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9032749 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Vdr vitamin D receptor treatment ISO DNA:SNP:exon: (rs2228570) (human) RGD PMID:16604479 RGD:8158082 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
progressive osseous heteroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2122458 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742 		JBrowse link
pseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
pseudohypoparathyroidism type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO OMIM:103580 MouseDO NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612 		JBrowse link
pseudohypoparathyroidism type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar PMID:17595244 NCBI chrNW_004624730:50,484,763...50,492,443
Ensembl chrNW_004624730:50,488,887...50,492,405 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar		 PMID:9536098 PMID:14561710 PMID:15579741 PMID:15800843 PMID:17576681 More... NCBI chrNW_004624741:24,951,985...24,980,049
Ensembl chrNW_004624741:24,952,793...24,974,554 		JBrowse link
pseudohypoparathyroidism type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C OMIM
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE | ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism OMIM
ClinVar		 PMID:219790 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar		 NCBI chrNW_004624864:1,054,130...1,091,071
Ensembl chrNW_004624864:1,054,284...1,090,398 		JBrowse link
Revesz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Revesz syndrome ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chrNW_004624820:8,239,087...8,252,716
Ensembl chrNW_004624820:8,239,904...8,252,541 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More... NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872 		JBrowse link
rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium sensing receptor ISO RGD PMID:12671052 RGD:734698 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 MouseDO NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S		 CTD
MouseDO
RGD		 PMID:9486994 PMID:11416220 PMID:16494812 RGD:1600874 RGD:734871 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10375030 NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Rickets ClinVar PMID:8392085 PMID:22145479 PMID:25741868 PMID:28492532 PMID:28620554 More... NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chrNW_004624736:37,134,718...37,204,543
Ensembl chrNW_004624736:37,133,059...37,197,218 		JBrowse link
vitamin D-dependent rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
vitamin D-dependent rickets type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:9537412 PMID:9792862 PMID:12204010 PMID:19863563 PMID:21786142 More... NCBI chrNW_004624786:6,296,975...6,318,266
Ensembl chrNW_004624786:6,298,243...6,317,743 		JBrowse link
G LOC101700851 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial treatment ISO ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A OMIM
ClinVar
RGD		 PMID:9415400 PMID:9486994 PMID:9536098 PMID:9837822 PMID:10518789 More... RGD:32716373 NCBI chrNW_004624802:10,176,865...10,181,725
Ensembl chrNW_004624802:10,176,919...10,181,657 		JBrowse link
G LOC101724787 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chrNW_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 More... NCBI chrNW_004624766:6,492,803...6,636,059
Ensembl chrNW_004624766:6,492,897...6,635,823 		JBrowse link
vitamin D-dependent rickets type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101724787 vitamin D 25-hydroxylase ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B OMIM
ClinVar		 PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chrNW_004624766:6,667,662...6,678,045
Ensembl chrNW_004624766:6,667,234...6,677,992 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B ClinVar PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 More... NCBI chrNW_004624766:6,492,803...6,636,059
Ensembl chrNW_004624766:6,492,897...6,635,823 		JBrowse link
vitamin D-dependent rickets type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Vdr vitamin D receptor treatment ISO ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: RICKETS-ALOPECIA SYNDROME | ClinVar Annotator: match by term: VDR-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A OMIM
ClinVar
RGD		 PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... RGD:13432060 RGD:32716373 NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chrNW_004624757:1,376,521...1,448,582
Ensembl chrNW_004624757:1,374,789...1,448,606 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624820:9,667,371...9,677,488
Ensembl chrNW_004624820:9,667,262...9,677,774 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chrNW_004624885:1,526,625...1,528,235
Ensembl chrNW_004624885:1,527,538...1,528,109 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
G Fam20c FAM20C golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chrNW_004624740:25,984,642...26,032,089
Ensembl chrNW_004624740:25,984,091...26,032,649 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM
ClinVar		 PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 More... NCBI chrNW_004624829:6,960,740...7,151,752
Ensembl chrNW_004624829:6,960,904...7,151,752 		JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive OMIM
ClinVar		 PMID:7915957 PMID:8559248 PMID:9187673 PMID:9328929 PMID:9734595 More... NCBI chrNW_004624893:1,390,417...1,581,457
Ensembl chrNW_004624893:1,390,344...1,577,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    Nutritional and Metabolic Diseases 6959
      disease of metabolism 6959
        Metabolic Bone Diseases 192
          Aloi Tomasini Isaia Syndrome 0
          Chitty Hall Baraitser Syndrome 0
          Hypophosphatemic Bone Disease 0
          Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
          Kaler Garrity Stern Syndrome 0
          ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
          Panostotic Fibrous Dysplasia 0
          Pathologic Bone Demineralization + 0
          Revesz syndrome 2
          congenital disorder of glycosylation type IIa 2
          glycoproteinosis + 12
          osteoporosis + 137
          progressive osseous heteroplasia 6
          pseudohypoparathyroidism + 5
          rickets + 23
Path 2
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13932
      musculoskeletal system disease 7378
        connective tissue disease 5031
          bone disease 3678
            Metabolic Bone Diseases 192
              Aloi Tomasini Isaia Syndrome 0
              Chitty Hall Baraitser Syndrome 0
              Hypophosphatemic Bone Disease 0
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Kaler Garrity Stern Syndrome 0
              ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
              Panostotic Fibrous Dysplasia 0
              Pathologic Bone Demineralization + 0
              Revesz syndrome 2
              congenital disorder of glycosylation type IIa 2
              glycoproteinosis + 12
              osteoporosis + 137
              progressive osseous heteroplasia 6
              pseudohypoparathyroidism + 5
              rickets + 23
paths to the root